Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient

Keyphrases

• G6PC3 100%
• Severe Congenital Neutropenia 100%
• Neutropenia 40%
• Severe Congenital Neutropenia Type 4 40%
• Autosomal Recessive 20%
• Male Patients 20%
• Rare Presentation 20%
• Multisystemic 20%
• Systemic Complications 20%
• Giant Platelets 20%
• Peripheral Blood Smear 20%
• Variable Severity 20%
• Homozygous Frameshift mutation 20%
• Recurrent Bacterial Infections 20%

Medicine and Dentistry

• Severe Congenital Neutropenia 100%
• Neutropenia 66%
• Disease 33%
• Bacterial Infection 33%
• Platelet 33%
• Frameshift Mutation 33%
• Autosomal Recessive Inheritance 33%
• Blood Smear 33%
• Case Presentation 33%